Disease #02284

Official abbreviation VDDR-1B
Name vitamin D hydroxylation-deficient rickets, type 1b (VDDR-1B)
OMIM ID 600081
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene CYP2R1
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00117372 28548312-Fam1PatII2 PubMed: Molin 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother M no France white - 0 yes 25-OH-D3 VDDR-1B see paper; ... CYP2R1 CYP2R1 1 1 Arnaud Molin
00117376 15128933-Pat PubMed: Cheng 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Nigeria - - 0 - - VDDR-1B age onset 2-7y; before treatment had low normal serum calcium levels (2.00–2.32 mM; normal 2.12–2.62), low serum phosphate levels (0.84–0.87 mM; normal 0.97–1.45), elevated serum alkaline phosphatase levels (2,360–3,000 u/l; normal 100–320), serum 1alpha,25-dihydroxyvitamin D levels (137–142 pM, normal 48–182), low 25-hydroxyvitamin D levels (10–12 nM; normal 25–137) CYP2R1 CYP2R1 1 1 Johan den Dunnen
00143833 28548312-Fam2 PubMed: Molin 2017 2-generation family, 6 affecteds (3F, 3M), unaffected heterozygous carrier parents F;M yes Morocco - - 0 - - VDDR-1B see paper; ... CYP2R1 CYP2R1 1 6 Johan den Dunnen
Legend